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Crouzon syndrome

Index Crouzon syndrome

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. [1]

69 relations: Alternative splicing, Apert syndrome, Brachycephaly, Branchial arch, Cellular differentiation, Chromosome 10, Coarctation of the aorta, Coronal suture, Craniofacial, Craniofacial surgery, Craniosynostosis, Cysteine, Cytosol, Disulfide, Dolichocephaly, Dominance (genetics), Down syndrome, Dysostosis, Embryo, Embryogenesis, Exon, Exophthalmos, Face, Femur, Fibroblast growth factor receptor, Fibroblast growth factor receptor 2, Fibroblast growth factor receptor 3, France, Frontal bone, Frontal suture, Hearing loss with craniofacial syndromes, Human eye, Humerus, Hypertelorism, Hypodontia, Hypoplastic maxilla, Intellectual disability, Lambdoid suture, Magnetic resonance imaging, Malocclusion, Mandible, Maxilla, Ménière's disease, Medical genetics, Mesenchymal stem cell, Octave Crouzon, Oral and maxillofacial surgery, Ossification, Osteoblast, Oxycephaly, ..., Patent ductus arteriosus, Pharyngeal arch, Physician, Plagiocephaly, Plastic surgery, Prognathism, Protein isoform, Receptor (biochemistry), Sagittal suture, Sandwich, Skull, Strabismus, Syndactyly, Tooth, Transmembrane protein, Treacher Collins syndrome, Trigonocephaly, Tyrosine, Visual impairment. Expand index (19 more) »

Alternative splicing

Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins.

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Apert syndrome

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.

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Brachycephaly

Brachycephaly (from Greek roots meaning "short" and "head") is the shape of a skull shorter than typical for its species.

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Branchial arch

Branchial arches, or gill arches, are a series of bony "loops" present in fish, which support the gills.

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Cellular differentiation

In developmental biology, cellular differentiation is the process where a cell changes from one cell type to another.

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Chromosome 10

Chromosome 10 is one of the 23 pairs of chromosomes in humans.

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Coarctation of the aorta

Coarctation of the aorta (CoA or CoAo), also called aortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts.

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Coronal suture

The coronal suture is a dense, fibrous connective tissue joint that separates the frontal and parietal bones of the skull.

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Craniofacial

Craniofacial (cranio- combining form meaning head or skull + -facial combining form referring to the facial structures grossly) is an adjective referring to the parts of the head enclosing the brain and the face.

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Craniofacial surgery

Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures.

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Craniosynostosis

Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant (very young) skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull.

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Cysteine

Cysteine (symbol Cys or C) is a semi-essential proteinogenic amino acid with the formula HO2CCH(NH2)CH2SH.

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Cytosol

The cytosol, also known as intracellular fluid (ICF) or cytoplasmic matrix, is the liquid found inside cells.

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Disulfide

In chemistry, a disulfide refers to a functional group with the structure R−S−S−R′.

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Dolichocephaly

Dolichocephaly (derived from the Ancient Greek δολιχός, meaning "long") is a condition where the head is longer than would be expected, relative to its width.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Down syndrome

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

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Dysostosis

A dysostosis is a disorder of the development of bone, in particular affecting ossification.

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Embryo

An embryo is an early stage of development of a multicellular diploid eukaryotic organism.

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Embryogenesis

Embryogenesis is the process by which the embryo forms and develops.

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Exon

An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.

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Exophthalmos

Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit.

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Face

The face is a central body region of sense and is also very central in the expression of emotion among humans and among numerous other species.

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Femur

The femur (pl. femurs or femora) or thigh bone, is the most proximal (closest to the hip joint) bone of the leg in tetrapod vertebrates capable of walking or jumping, such as most land mammals, birds, many reptiles including lizards, and amphibians such as frogs.

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Fibroblast growth factor receptor

The fibroblast growth factor receptors are, as their name implies, receptors that bind to members of the fibroblast growth factor family of proteins.

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Fibroblast growth factor receptor 2

Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 (cluster of differentiation 332) is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10.

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Fibroblast growth factor receptor 3

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene.

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France

France, officially the French Republic (République française), is a sovereign state whose territory consists of metropolitan France in Western Europe, as well as several overseas regions and territories.

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Frontal bone

The frontal bone is a bone in the human skull.

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Frontal suture

The frontal suture is a fibrous joint that divides the two halves of the frontal bone of the skull in infants and children.

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Hearing loss with craniofacial syndromes

Hearing loss with craniofacial syndromes is a common occurrence.

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Human eye

The human eye is an organ which reacts to light and pressure.

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Humerus

The humerus (plural: humeri) is a long bone in the arm or forelimb that runs from the shoulder to the elbow.

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Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.

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Hypodontia

Hypodontia is an inherited condition characterized by developmentally missing teeth, without taking the absent third molars into account.

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Hypoplastic maxilla

Hypoplastic maxilla is the name given to the dysfunctional structural condition around which the oral disruption literally pivoted.

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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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Lambdoid suture

The lambdoid suture (or lambdoidal suture) is a dense, fibrous connective tissue joint on the posterior aspect of the skull that connects the parietal bones with the occipital bone.

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Magnetic resonance imaging

Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.

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Malocclusion

A malocclusion is a misalignment or incorrect relation between the teeth of the two dental arches when they approach each other as the jaws close.

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Mandible

The mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human face.

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Maxilla

The maxilla (plural: maxillae) in animals is the upper jawbone formed from the fusion of two maxillary bones.

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Ménière's disease

Ménière's disease (MD) is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning (vertigo), ringing in the ears (tinnitus), hearing loss, and a fullness in the ear.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Mesenchymal stem cell

Mesenchymal stem cells are multipotent stromal cells that can differentiate into a variety of cell types, including osteoblasts (bone cells), chondrocytes (cartilage cells), myocytes (muscle cells) and adipocytes (fat cells which give rise to marrow adipose tissue).

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Octave Crouzon

Octave Crouzon, full name Louis Edouard Octave Crouzon (1874–1938), was a French neurologist born in Paris.

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Oral and maxillofacial surgery

Oral and maxillofacial surgery (OMS or OMFS) specializes in treating many diseases, injuries and defects in the head, neck, face, jaws and the hard and soft tissues of the oral (mouth) and maxillofacial (jaws and face) region.

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Ossification

Ossification (or osteogenesis) in bone remodeling is the process of laying down new bone material by cells called osteoblasts.

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Osteoblast

Osteoblasts (from the Greek combining forms for "bone", ὀστέο-, osteo- and βλαστάνω, blastanō "germinate") are cells with a single nucleus that synthesize bone.

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Oxycephaly

Oxycephaly is a type of cephalic disorder where the top of the skull is pointed or conical due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures.

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Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.

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Pharyngeal arch

The pharyngeal arches —also known as visceral arches—are structures seen in the embryonic development of vertebrates that are recognisable precursors for many structures.

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Physician

A physician, medical practitioner, medical doctor, or simply doctor is a professional who practises medicine, which is concerned with promoting, maintaining, or restoring health through the study, diagnosis, and treatment of disease, injury, and other physical and mental impairments.

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Plagiocephaly

Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull.

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Plastic surgery

Plastic surgery is a surgical specialty involving the restoration, reconstruction, or alteration of the human body.

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Prognathism

Prognathism is the positional relationship of the mandible or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull.

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Protein isoform

A protein isoform, or "protein variant" is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences.

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Receptor (biochemistry)

In biochemistry and pharmacology, a receptor is a protein molecule that receives chemical signals from outside a cell.

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Sagittal suture

The sagittal suture is a dense, fibrous connective tissue joint between the two parietal bones of the skull.

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Sandwich

A sandwich is a food typically consisting of vegetables, sliced cheese or meat, placed on or between slices of bread, or more generally any dish wherein two or more pieces of bread serve as a container or wrapper for another food type.

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Skull

The skull is a bony structure that forms the head in vertebrates.

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Strabismus

Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.

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Syndactyly

Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.

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Tooth

A tooth (plural teeth) is a hard, calcified structure found in the jaws (or mouths) of many vertebrates and used to break down food.

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Transmembrane protein

A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the biological membrane to which it is permanently attached.

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Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.

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Trigonocephaly

Trigonocephaly (from Greek trigonon, "triangle", and kephale, "head") is a congenital condition of premature fusion of the metopic suture (from Greek metopon, "forehead"), leading to a triangular shaped forehead.

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Tyrosine

Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.

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Visual impairment

Visual impairment, also known as vision impairment or vision loss, is a decreased ability to see to a degree that causes problems not fixable by usual means, such as glasses.

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Redirects here:

Courzon's syndrome, Craniofacial Dysostosis, Craniofacial dysarthrosis, Craniofacial dysostosis, Crouzon Syndrome, Crouzon disease, Crouzon's Syndrome, Crouzon's disease, Crouzon's syndrome, Crouzons, Crouzon’s Syndrome, Petero Byakatonda.

References

[1] https://en.wikipedia.org/wiki/Crouzon_syndrome

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